PMID- 8565646
OWN - NLM
STAT- MEDLINE
DCOM- 19960304
LR  - 20180214
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 72
IP  - 1
DP  - 1996
TI  - The detection of contiguous gene deletions at the neurofibromatosis 1 locus with 
      fluorescence in situ hybridization.
PG  - 95-8
AB  - Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized 
      primarily by the development of multiple neurofibromas and pigmentary changes. 
      The recent identification of contiguous gene deletions in NF1, a previously 
      unrecognized molecular basis for this disorder, raises important questions 
      regarding deletion frequency in the patient population and the role that 
      contiguous genes may play in the physical manifestations of NF1 patients. To 
      facilitate the identification of patients with large NF1 deletions, we have 
      isolated clones carrying large genomic segments from the NF1 locus and tested 
      their efficacy as probes for fluorescence in situ hybridization (FISH). Clone 
      P1-9 spans approximately 65 kb of the NF1 gene, including exons 2-11, and clone 
      P1-12 carries approximately 55 kb of NF1 intron 27B. FISH studies performed with 
      P1-9, P1-12, and a set of overlapping 1F10 cosmid clones mapping telomeric to the 
      NF1 locus identified large deletions in two new neurofibromatosis type 1 patients 
      who, like previously characterized deletion patients, had mildly dysmorphic 
      facial features and large numbers of cutaneous neurofibromas.
FAU - Leppig, K A
AU  - Leppig KA
AD  - Department of Pediatrics, University of Washington, Seattle, USA.
FAU - Viskochil, D
AU  - Viskochil D
FAU - Neil, S
AU  - Neil S
FAU - Rubenstein, A
AU  - Rubenstein A
FAU - Johnson, V P
AU  - Johnson VP
FAU - Zhu, X L
AU  - Zhu XL
FAU - Brothman, A R
AU  - Brothman AR
FAU - Stephens, K
AU  - Stephens K
LA  - eng
GR  - K08 NS01492/NS/NINDS NIH HHS/United States
GR  - M01-RR0064/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Chromosome Aberrations/diagnosis
MH  - *Chromosome Deletion
MH  - Chromosome Disorders
MH  - *Genes, Neurofibromatosis 1
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Neurofibromatosis 1/*genetics
MH  - Restriction Mapping
MH  - Syndrome
EDAT- 1996/01/01 00:00
MHDA- 1996/01/01 00:01
CRDT- 1996/01/01 00:00
PHST- 1996/01/01 00:00 [pubmed]
PHST- 1996/01/01 00:01 [medline]
PHST- 1996/01/01 00:00 [entrez]
AID - 10.1159/000134171 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1996;72(1):95-8. doi: 10.1159/000134171.